APPROACH TO SHORT STATURE

DR. AMIT KUMAR

ASSISTANT PROFESSOR
PAEDIATRICS, IGIMS
 DEFINITION
• Short stature is defined as height below 3
rd

centile or more than 2 SD below the median

height for age and gender according to the
population standard

• Around 3 % of the population will be of short

stature according to definition
 MID-PARENTAL HEIGHT(MPH)
• Determines the genetic potential
• MPH for Boys = Mother + Father Height + 6.5

• MPH for Girls = Mother + Father Height - 6.5

2
 Q1
• Calculate MPH for a boy with
Father`s height = 161 cm
Mother`s height = 140 cm

• 157 cm
 Q2
• Calculate MPH for a girl with
Father`s height = 161 cm
Mother`s height = 140 cm

• 144 cm
 BONE AGE
• Should be done in all children with short
stature
• Evaluated by appearance of epiphysis and
fusion of epiphysis with metaphysis
• Conventionally xray of left hand and wrist is
used
• BA can be determined using Gruelich Pyle
atlas or Tanner Whitehouse(TW2) method
• Chronological age (CA)

• Height age ( HA)

• Weight age ( WA)

• Bone age (BA)

 Significance of BA
• BA gives idea about proportion of adult
height achieved
• BA < CA in almost all causes of short stature
• BA = CA in familial short stature
• BA > CA in precocious puberty
AUXOLOGY
 Assessment of a child with short
stature
1) Accurate height
measurement
• Below 2 yrs- supine length with
infantometer
.
• For older children-
harpenden
Stadiomete
r
Height measurements
• Without footwear

• Heels & back touching

the wall

• Looking straight ahead

in Frankfurt plane.

• Record to last 0.1cm

 How to measure upper and lower
segments?
You should measure the upper segment( US )
then by using the total height you will obtain LS.
Upper segment is the sitting height.
Interpretation of US/LS ratio
Arm span
 Sexual Maturity Rating (SMR)
• SMR should be assessed in older children
Also known as Tanner`s stages.
Shortstature:
▪precocious puberty due to early epiphyseal fusion.
▪Delayed puberty as growth spurt is delayed.
Factors affecting height
Environment FSH
Insulin Nutrition LH
Growth Hormone
IGF 1 Thyroid hormone GH
Thyroid
Sex hormones

FETUS Birt 1 2 4yea 8yea Pubert Adult

h year ye ars rs rs y
 Growth velocity
YEAR INCREMENT (in cms)

1 25
2 10
3,4 7
5,6 6
7 – Puberty 5
Mid - puberty 9 – 10.3

Growth accelerates
again at puberty.
The timing of the
pubertal
growth spurt differs
between girls and
boys.
 What we know so far
• Definition
• MPH
• CA, HA, WA, BA
• Auxology
• SMR
• Factors affecting height at different ages
• Growth velocity pattern and chart
 Nutritional
Short Stature
Endocrine
Pathological
Genetic

SGA babies

Short stature
psychosocial

Chronic
diseases

Physiological CDG

Familial
 CAUSES OF SHORT STATURE
A) Proportionate Short Stature
1) Normal Variants/Physiological:
i) Familial
ii) Constitutional Growth Delay
2) Prenatal Causes:
i) Intra-uterine Growth Restriction-
Placental causes, Infections, Teratogens
ii) Intra-uterine Infections
iii) Genetic Disorders (Chromosomal
& Metabolic Disorders)
3) Postnatal Causes:
i) Undernutrition
ii) Chronic Systemic Illness
- Cardiopulmonary: CHD, Asthma,
Cystic Fibrosis
- Renal: RTA, CRF, Steroid dependent
Nephrotic Syndrome
- GI and Hepatic: Malabsorption, IBD,
chronic liver disease
- Chronic Severe Infections
- Hematological : Thalassemia, Sickle cell
anemia
iii) Psychosocial Short Stature
(emotional deprivation)

iv) Endocrine Causes:

- Growth Hormone Deficiency/ insensitivity
- Hypothyroidism
- Juvenile Diabetes Mellitus
- Cushing Syndrome
- Pseudohypoparathyroidism
- Precocious/ delayed puberty
B) Disproportionate Short Stature
1) With Short Limbs:
- Achondroplasia,
Chondrodysplasia punctata,
Chondroectodermal Dysplasia,
Diastrophic dysplasia, Metaphyseal
Chondrodysplasia
- Osteogenesis Imperfecta,
Refractory Rickets

2) With Short Trunk:

- Spondyloepiphyseal dysplasia,
Mucolipidosis, Mucopolysaccharidosis
- Caries Spine, Hemivertebrae
 Assessment of child with Short Stature

⚫■Accurate height
assessment
⚫■Assessment of body
proportions
⚫■Assessment of height
velocity
⚫■Comparison with population
norms
⚫■Comparison with child’s own genetic potential
⚫■Sexual maturity
rating
 Diagnosis
• Detailed history
• Careful examination
• Laboratory evaluation
 Clues to etiology from history
History Etiology

History of delay of puberty in parents Constitutional delay of growth

Low Birth Weight SGA

Neonatal hypoglycemia, jaundice, micropenis GH deficiency

Dietary intake Under nutrition

Headache, vomiting, visual problem Pituitary/ hypothalamic SOL

Lethargy, constipation, weight gain Hypothyroidism

Polyuria CRF, RTA

Social history Psychosocial dwarfism

Diarrhea, greasy stools Malabsorption

 Pointers to etiology of short stature
Pointer Etiology

Midline defects, micropenis, Frontal bossing, GH deficiency

depressed nasal bridge, crowded teeth,
Rickets Renal failure, RTA, malabsorption

Pallor Renal failure, malabsorption, nutritional

anemia

Malnutrition PEM, malabsorption, celiac disease, cystic

fibrosis

Obesity Hypothyroidism, Cushing syndrome, Prader

Willi syndrome

Metacarpal shortening Turner syndrome, pseudohypoparathyroidism

Cardiac murmur Congenital heart disease, Turner syndrome

Mental retardation Hypothyroidism, Down/ Turner syndrome,

pseudohypoparathyroidism
 Clues to etiology from examination
Examination finding Etiology

Disproportion Skeletal dysplasia, rickets, hypothyroidism

Dysmorphism Congenital syndromes

Hypertension CRF

Goitre, coarse skin Hypothyroidism

Central obesity, striae Cushing syndrome

 Investigation:
Level 1 ( essential investigations):

• Complete hemogram with ESR

• BONE AGE
• Urinalysis ( Microscopy, pH, Osmolality)
• Stool ( parasites, steatorrhea, occult blood)
• Blood ( RFT, Calcium, Phosphate, alkaline
phosphatase, venous gas, fasting sugar, albumin,
transaminases)
Level 2:
• Serum thyroxine, TSH
• Karyotype to rule out Turner syndrome in girls
If above investigations are normal and height
between -2 to -3 SD Observe height velocity for
6-12 months
If height < 3SD level 3 investigations
Level 3:
• Celiac serology ( anti- endomysial or anti- tissue
transglutaminase antibodies)
• Duodenal biopsy
• GH stimulation test with Clonidine or insulin &
serum IGF-1, IGFBP-3 estimation
• MRI brain if low GH levels
Skeletal survey in all patients with disproportionate
short stature
Familial short stature –
-- Ht < than 3 rd percentile but is normal according to his
own genetic potential.
-- Family h/o short stature is present.
-- No evidence of disease.
-- Normal ht ,wt at birth and then show a catch down
growth , so that the ht & wt come to lie on their target
centile by age of 2 y. Final ht is short but appropriate for
MPH .
-- BA=CA , HA<CA
Short Stature
Normal Variants
FS ▲=B
▲
A
S ▲

HA < CA ▲

BA = ▲

CA
“Short
Parents”
37
 Commonest
Constitutional delay in growth
-- CDG is a common variant of normal growth.
-- Cross down %ile curve during first 2-3 yrs then
steady growth parallel to 3rd %ile curve and again
cross up % ile curve at puberty.
-- Delayed puberty and adolescent growth spurt .
-- Final ht near normal. F/H is also present.
-- BA < CA , ie bone age is delayed. But BA=HA.
Short Stature
Normal Variants ▲
TH

▲
CDGP ▲=B
A ▲
Constitutional Delay
of Growth and
▲
Puberty
▲

HA < CA ▲

BA <
CA
39
 Comparison
Feature Familial Short Stature Constitutional Short Stature

1) Sex Both equally affected More common in boys

2) Length at Birth Normal Normal (starts falling <3rd

centile in 1st 3yrs of life)
3) Family History Of short stature Of delayed puberty

4) Parents Stature Short (one or both) Average

5) Height Velocity Normal Normal

6) Puberty Normal Delayed

7) Bone Age & Chronological BA = CA > Height Age CA > BA = Height Age
Age
8) Final Height Short, but normal for target Normal
height
 Genetic Syndromes:
A) Chromosomal Disorders
- Turner syndrome ( XO) :
an incidence of 1 in 2000
live births
- should be ruled out even
if typical phenotypic
features are absent
- Other e.g.: Down, Noonan, Prader-Willi,
Silver- Russel, Seckle syndrome
B) Inborn Errors of Metabolism
-eg. Galactosemia, Aminoaciduria
 Under nutrition:
• One of the commonest cause of short stature in
India
• Protein Energy Malnutrition, anemia and trace
element deficiency such as Zinc def are common
causes
• Weight gain is slow and muscles are wasted. Long
standing malnutrition leads to Stunting
• BA < CA
• Diagnosis: good dietary history, anthropometric
measurements
 Chronic Systemic Illness:
1) Chronic Infections
-eg:TB, Malaria, Leishmaniasis, Chr. pyelonephiritis
- Growth retardation is due to impaired appetite,
decreased food intake, increased catabolism,
poor utilization of food, vomiting & diarrhoea
2) Malabsorbtion Syndromes
- eg: chronic recurrent infective diarrhoea, lactose
intolerance, cystic fibrosis, celiac disease,
giardiasis, cow’s milk allergy,
abeta lipoproteinemia
3) Birth defects:
CHD, urinary tract & nervous system anomalies

4) Miscellaneous:
Cirrhosis of liver, bronchiectasis, acquired
heart diseases, cardiomyopathies

5) RTA , DI, DM
 Skeletal dysplasias:

⚫ Aka chondrodysplasias
⚫ Inborn error in formation of
components of skeletal system
causing disturbance of cartilage

⚫
& bone
Abnormal skeletal proportions

⚫
& severe short stature
Diagnosis-
family history, measurement of
body proportions, examination of limbs & skulls, skeletal
survey
 Psychosocial Dwarfism
• Emotional deprivation dwarfism/ Maternal
deprivation dwarfism/ Hyperphagic short
stature

• Functional hypopituitarism

• Low IGF-1 levels & inadequate response to GH

• Good catch up growth in less stressful

environment
 Turner syndrome
- classic form being 45,XO
- progressive deviation of height
away from the normal growth curve
- Streak gonads
- small birth size and dysmorphic
features
- Abnormally high levels of the
gonadotropins, LH, FSH

Treatment –
• GH therapy
• sex steroid replacement therapy
 Growth hormone deficiency
• Congenital -
-idiopathic
-associated with midline defects (absent septum pellucidum,
optic nerve hypoplasia [septooptic dysplasia], cleft palate,
holoprosencephaly, single central incisor)
-defects in the genes for GH
• Acquired –
-birth injury
-head injury
-cranial irradiation
-craniopharyngioma
• Growth hormone insensitivity (Laron syndrome)
• Clinical features –
- Normal birth size
- Mid-facial crowding
- Round cherubic facies
- Depressed nasal bridge
- Micropenis
- Frontal bossing
- Height age < weight age
- Neonates – hypoglycemia/
prolonged jaundice
- Bone age is delayed
- Body proportions are normal
 Hypothyroidism
• May be congenital or acquired
• Clinical features –
- Prolongation of physiologic icterus
- Birth size normal
- Feeding difficulty, sluggishness
- Large tongue, large abdomen
- Poor appetite
- Umbilical hernia
- Cold & mottled extremities
- Wide open ant. & post. Fontenelle
- Short stature, Bone age delayed A.Congenital hypothyroidism in an infant
- Myxoedema 6 mo of age
B.Four mo after treatment, decreased puffiness
- Dry skin, delayed puberty alert appearance
Lab. Diagnosis –
-Newborn screening for congenital Hypothyroidism is routine
- If abnormal repeat
- Elevated serum TSH and low T4.
- Positive TSH receptor-blocking antibodies- diagnosis for transient
congenital Hypothyroidism
- If normal TSH & low T4, look for Pituitary or hypothalamic cause
- Thyroid antibodies (antithyroglobulin, antimicrosomal antibodies) is
consistent with autoimmune thyroiditis.

Treatment –
-In neonates, the initial starting dose is 10-15 μg/kg.
- Children with hypothyroidism require about 4 μg/kg/24 hr.
- Monitoring of free T4 (or FTI) and TSH is essential for optimizing the
dose of medication.
- Educate parents and child about disease.
 Management:

• Counseling of parents
( for physiological causes)
• Dietary advice
( Undernutrition, Celiac disease, RTA )
• Limb lengthening procedures
( skeletal dysplasias )
• Levothyroxine ( In Hypothyroidism)
• GH s/c injections ( GH deficiency, Turner
syndrome, SGA, CRF prior to transplant)
 Growth hormone therapy
• Approved Indications for GH therapy
– Growth hormone deficiency
– Growth failure associated with CKD.
– Turner syndrome.
– Prader-Willi syndrome.
– Short stature associated with mutations in the Short
Stature Homeobox (SHOX) gene.
– Noonan syndrome
– Small for gestational age.
– Idiopathic short stature.
 Dosage of rGH
• GHD – 0.16 – 0.3 mg/kg/week
• Prader willi syndrome – 0.24 mg/kg/week
• Pubertal dosing (when growth is poor )- 0.4-0.7 mg/kg/week
• Adult GHD : 0.04 – 0.06 mg/kg/week
• Noonan syndrome – 0.375 mg/kg/week
• SGA – 0.48 mg/kg/week
• Idiopathic Short Stature – 0.37 mg/kg/week
• SHOX – 0.37 mg/kg/week
• Turner syndrome – 0.375 mg/kg/day

hGH 1 mg = 3 IU
MCQs
• This is NOT a cause pf pathological short
stature

• (a) Familial
• (b)cushings disease
• ©chronic disease
• (d)malabsorption syndrone
• Upper segment can be ideally measured with
the child
• (a) lying down
• (b) standing
• © sitting on a stool
• (d) squatting
• For calculating target height of a girl, we first
compute the average parental height and then
• (a) add 6.5 cm
• (b) subtract 6.5 cm
• © add 10 cm
• (d) subtract 10 cm
• Children with familial short stature show catch
down growth between
• (a) birth - 2 years
• (b) 3-5 years
• © at 7-10 years
• (d) 12- 16 years
• A syndrome NOT associated with short stature
is
• (a) Down
• (b) Turner
• © Prader willi
• (d) Klienfelter
• A child with short stature has midline defects
and micropenis. The most likely diagnosis is
• (a) Rickets
• (b) growth hormone deficiency
• ©Turner's syndrome
• (d) cystic fibrosis
• Growth hormone provocation test CANNOT be
done by
• (a) glucagon
• (b) insulin
• © clonidine
• (d) Glucose
 EXPECTED QUESTIONS
• Define short stature. How will you approach a
case with short stature?
• Difference between constitutional and
familial short stature
• Causes of short stature.
• Proportionate vs disproportionate short
stature
• GH therapy
Genghis Khan

THANK
YOU
Voltaire